臨床神経学

第51回日本神経学会総会

<シンポジウム02―5>アカデミア発の創薬・治療研究
成人型シトルリン血症の治療―低炭水化物食と経口ピルビン酸投与の有効性

矢崎 正英1), 池田 修一1), 小林 圭子2), 佐伯 武頼3)

1)信州大脳神経内科,リウマチ・膠原病内科〔〒390―8621 松本市旭3―1―1〕
2)鹿児島大大学院分子病態生化学
3)徳島文理大健康科学研究所

Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease characterized by highly elevated plasma levels of citrulline and ammonia due to the urea cycle dysfunction associated with citrin deficiency. Patients with CTLN2 show various neurological symptoms with hyperammonemia closely resembling those of hepatic encephalopathy. Since 1990, 26 CTLN2 patients (17 males and 9 females) have been admitted and treated at Shinshu University Hospital. Twelve of the 26 patients received living related partial liver transplantation (LRLT). After LRLT, neurological symptoms soon disappeared, and all patients returned to their previous social lives. Among the 14 patients that did not undergo LRLT, 6 died of intractable encephalopathy or the development of hepatic cancer, but 8 patients have had relatively good clinical courses (follow-up range 0.5-8 years) with oral intake of L-arginine and low-carbohydrate and relatively protein-rich diet. Six patients have been also given sodium pyruvate and the frequency of attacks of encephalopathy markedly decreased in 5 of 6 patients. Our observations indicated that liver transplantation is a very promising type of therapy but that other therapeutic approaches, including low-carbohydrate diet and pyruvate, are being established.
Full Text of this Article in Japanese PDF (327K)

(臨床神経, 50:844−847, 2010)
key words:成人型シトルリン血症,低炭水化物制限食,ピルビン酸ナトリウム,アルギニノコハク酸合成酵素,シトリン

(受付日:2010年5月21日)